Human Gene Module / Chromosome 10 / ZMIZ1

ZMIZ1zinc finger MIZ-type containing 1

Score
2S
Strong Candidate, Syndromic Criteria 2.1, Syndromic
Autism Reports / Total Reports
1 / 4
Rare Variants / Common Variants
17 / 0
Aliases
ZMIZ1, MIZ,  NEDDFSA,  RAI17,  TRAFIP10,  ZIMP10
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation, Syndromic
Chromosome Band
10q22.3
Associated Disorders
ADHD, ASD
Relevance to Autism

Analysis of whole-genome sequencing data in Liu et al., 2018 demonstrated that a distal enhancer putatively targeting the ZMIZ1 gene harbored recurrent de novo single-nucleotide variants in ASD-affected cases. Carapito et al., 2019 reported 19 individuals with ZMIZ1 variants presenting with a neurodevelopmental syndrome characterized by developmental delay/intellectual disability, growth failure, feeding difficulties, microcephaly, facial dysmorphism, and various other congenital malformations; behavioral abnormalities, including autism spectrum disorder, were frequently observed in affected individuals.

Molecular Function

This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation.

Reports related to ZMIZ1 (4 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Support A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alt... Crdova-Fletes C , et al. (2015) No Behavioral abnormalities
2 Primary A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies. Liu Y , et al. (2018) Yes -
3 Recent recommendation ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Carapito R , et al. (2019) No ASD
4 Support Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent. Latchman K , et al. (2019) No ADHD, autistic features
Rare Variants   (17)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - translocation De novo NA Simplex 30639322 Carapito R , et al. (2019)
- - translocation De novo NA Simplex 26163108 Crdova-Fletes C , et al. (2015)
c.3097-2A>G - splice_site_variant De novo NA Simplex 30639322 Carapito R , et al. (2019)
c.272A>G p.Lys91Arg missense_variant De novo NA Simplex 30639322 Carapito R , et al. (2019)
c.859G>A p.Ala287Thr missense_variant De novo NA Simplex 30639322 Carapito R , et al. (2019)
c.887C>A p.Thr296Lys missense_variant De novo NA Simplex 30639322 Carapito R , et al. (2019)
c.887C>T p.Thr296Ile missense_variant De novo NA Simplex 30639322 Carapito R , et al. (2019)
c.893C>T p.Thr298Ile missense_variant De novo NA Simplex 30639322 Carapito R , et al. (2019)
c.899C>T p.Thr300Met missense_variant De novo NA Simplex 30639322 Carapito R , et al. (2019)
c.2610C>T p.Ser870%3D synonymous_variant De novo NA Simplex 30639322 Carapito R , et al. (2019)
c.1386dup p.Thr463HisfsTer14 frameshift_variant De novo NA Simplex 30639322 Carapito R , et al. (2019)
c.2758dup p.Gln920ProfsTer34 frameshift_variant De novo NA Simplex 30639322 Carapito R , et al. (2019)
c.2835del p.Met946CysfsTer61 frameshift_variant De novo NA Simplex 30639322 Carapito R , et al. (2019)
c.3021del p.Phe1008LeufsTer7 frameshift_variant De novo NA Simplex 30639322 Carapito R , et al. (2019)
c.3112dup p.Thr1038AsnfsTer4 frameshift_variant De novo NA Simplex 30639322 Carapito R , et al. (2019)
c.1386dup p.Thr463HisfsTer14 frameshift_variant Unknown - Multiplex 30639322 Carapito R , et al. (2019)
c.1310del p.Pro437ArgfsTer84 frameshift_variant Familial Paternal Multiplex 31833199 Latchman K , et al. (2019)
Common Variants  

No common variants reported.

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SFARI Gene Update

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